Article
Results from a Genome-Wide Association Study (GWAS) in Mastocytosis Reveal New Gene Polymorphisms Associated with WHO Subgroups.
International journal of molecular sciences - 31 Jul 2020
Nedoszytko Bogusław, Sobalska-Kwapis Marta, Strapagiel Dominik, Lange Magdalena, Górska Aleksandra, Elberink Joanne N G Oude, van Doormaal Jasper, Słomka Marcin, Kalinowski Leszek, Gruchała-Niedoszytko Marta, Nowicki Roman J, Valent Peter, Niedoszytko Marek
Abstract excerpt
Mastocytosis is rare disease in which genetic predisposition is not fully understood. The aim of this study was to analyze associations between mastocytosis and single nucleotide polymorphisms (SNPs) by a genome-wide association study (GWAS) approach. A total of 234 patients were enrolled in our study, including 141 with cutaneous mastocytosis (CM; 78 children and 63 adults) and 93 with systemic mastocytosis (SM,...
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